Pompe disease (also known as glycogen storage disease type II (GSD-II), glycogenosis II, acid maltase deficiency (AMD), acid alpha-glucosidase deficiency, and lysosomal alpha-glucosidase deficiency) is an inherited lysosomal storage disorder caused by deficiency of an enzyme called acid α-glucosidase (GAA). The role of GAA within the body is to break down glycogen, the form of sugar stored in living cells for use as energy. Reduced or absent levels of GAA activity leads to the accumulation of glycogen in the affected tissues, including the heart, skeletal muscles (including those involved with breathing), liver, and nervous system. This accumulation of GAA is believed to cause progressive muscle weakness and respiratory insufficiency in individuals with Pompe disease. Pompe disease can occur in infants, toddlers, or adults, and the prognosis varies according to the time of onset and severity of symptoms. It is estimated that Pompe disease affects approximately 5,000 to 10,000 people worldwide.
There is a need for a mouse model to study Pompe disease and to test agents that may be effective in the treatment of Pompe disease.